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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.

Term:nuclear type mitochondrial complex I deficiency 17
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Accession:DOID:0112078 term browser browse the term
Definition:A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the NDUFAF6 gene on chromosome 8q22.1. (DO)
Synonyms:exact_synonym: MC1DN17
 primary_id: OMIM:618239



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nuclear type mitochondrial complex I deficiency 17 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ndufaf6 NADH:ubiquinone oxidoreductase complex assembly factor 6 ISO ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 17 OMIM
ClinVar
PMID:9536098 PMID:17576681 PMID:18614015 PMID:22019594 PMID:25741868 More... NCBI chr 5:24,147,712...24,171,981
Ensembl chr 5:24,147,735...24,171,951
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21155
    Nutritional and Metabolic Diseases 8231
      disease of metabolism 8231
        mitochondrial metabolism disease 810
          mitochondrial complex I deficiency 70
            nuclear type mitochondrial complex I deficiency 53
              nuclear type mitochondrial complex I deficiency 17 1
Path 2
Term Annotations click to browse term
  disease 21155
    Developmental Disease 18469
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 18327
        genetic disease 18271
          inherited metabolic disorder 6208
            mitochondrial metabolism disease 810
              mitochondrial complex I deficiency 70
                nuclear type mitochondrial complex I deficiency 53
                  nuclear type mitochondrial complex I deficiency 17 1
paths to the root